Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

Kim, Se-Min; Korkmaz, Funda; Sims, Steve; Ryu, Vitaly; Yuen, Tony; Zaidi, Mone

doi:10.1016/j.afos.2023.12.003

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2024

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Cited by 2 publications

References 67 publications

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Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

Inoue

2024

Osteoporosis and Sarcopenia

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Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

Inoue

2024

Osteoporosis and Sarcopenia

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Gene Therapy for Hypophosphatasia: Current Management and Future

Matsumoto,

Narisawa,

Luis Millán

et al. 2024

Genetically Modified Organisms [Working Title]

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This review provides a comprehensive overview of hypophosphatasia (HPP), a rare genetic disorder marked by defective bone and teeth mineralization due to mutations in the ALPL gene. It reviews the evolution of HPP treatment, from early symptomatic management methods to the latest therapeutic approaches, emphasizing significant milestones achieved over time. In addition, this review delves into gene therapy’s historical development, outlining its successes and challenges. Furthermore, it presents a detailed analysis of why this innovative therapy holds promise for HPP, focusing on its efficacy in correcting the underlying biochemical defects and significantly improving patient outcomes. Moreover, the review discusses future research directions, highlighting the critical need for ongoing innovation and rigorous clinical trials to further enhance the efficacy and safety of gene therapy for HPP. Continuous research is essential to developing more effective treatments and ultimately improving the quality of life for patients affected by this debilitating condition.

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Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

Cited by 2 publications

References 67 publications

Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

Gene Therapy for Hypophosphatasia: Current Management and Future

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